Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention,Outcome Measures

Sum M ARY 这项建议的目的是在Fragile X Online注册表的基础上 可访问的研究数据库(向前)，并获得更详细的纵向数据 描述患有脆性X综合征(FXS)的儿童和年轻人的表型 更好地描述脆性X综合征(FXS)的自然病史。这项研究的一个成果将是 了解影响儿童生活的有意义的结果的纵向轨迹 以及患有和不患有自闭症谱系障碍(ASD)的FXS青少年，以及来自不同 美国各地的种族/民族群体和地理位置。这项研究将 描述认知、行为和适应技能以及功能的其他指标 FXS患者，并确定这些结果与早期诊断病史的关系 干预和获得服务的机会。最后，本研究将收集数据进行实践探索， 照顾患有FXS的家庭成员对照顾者的经济和心理影响 以及患有FXS的兄弟姐妹。获奖后，将在#年选择要衡量的结果 与疾病预防控制中心的研究协调，探索早期发育(SEED)后续研究(RFA- DD-21-001)，并将包括标准化的面对面行为和功能评估以及 计算机辅助电话调查问卷的跟踪调查。来自该项目的数据和 种子项目将被收集并存放在一个安全的电子数据系统中，该系统在 疾病控制与预防中心签约的组织。选择研究结果将有助于比较健康状况 以及FXS人群的功能结果与其他相关的和经常联合的 发生条件，如自闭症和发育迟缓。结果数据将有助于 确定影响FXS患者的公共卫生差距，告知服务交付 建议和通知干预性研究的设计，所有这些都是为了改善 FXS患者及其家人的生命。

SUM M ARY The purpose of this proposal is to build on the foundation of the Fragile X Online Registry With Accessible Research Database (FORWARD) and obtain more detailed longitudinal data describing the phenotype of children and young adults with fragile X syndrome (FXS) in order to better characterize the natural history of fragile X syndrome (FXS). A product of the study will be to understand the longitudinal trajectory of meaningful outcomes that impact the lives of children and adolescents with FXS with and without autism spectrum disorder (ASD), and from different racial/ethnic groups and geographic locations across the United States. The research will characterize cognitive, behavioral, and adaptive skills, and other indicators of functioning of individuals with FXS, and determine how these outcomes relate to diagnostic history, early intervention, and access to services. Finally, this study will collect data to explore the practical, financial, and psychological impact that caring for a family member with FXS has on caregivers and siblings of those with FXS. Post-award, outcomes to be measured will be chosen in coordination with CDC's Study to Explore Early Development (SEED) Follow-up Study (RFA- DD-21-001) and will include standardized in-person behavioral and functional assessments and follow-up computer-assisted telephone survey questionnaires. Data from this project and the SEED project will be collected and housed in a secure electronic data system maintained at a CDC-contracted organization. Outcomes chosen for study will facilitate comparison of health and functional outcomes for the FXS population with those for other related and frequently co - occurring conditions, such as ASD and developmental delay. Outcome data will assist with identifying public health gaps affecting those with FXS, inform service delivery recommendations and inform design of interventional studies, all with the goal of improving the lives of those with FXS and their families.